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GENE - TERM ANNOTATION REPORT

RGD ID: 2720
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gnrh1
Name: gonadotropin releasing hormone 1
Acc ID: DOID:0090072
Term: hypogonadotropic hypogonadism 12 with or without anosmia
Definition: A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19535795 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Gnrh1 ISOGNRH1 (Homo sapiens)9685133RGDDNA:missense mutation:cds:p.R31C (human) 
Gnrh1 ISOGNRH1 (Homo sapiens)9685134RGDDNA:frameshift mutation:cds:c.18-19insA (human) 
Gnrh1 ISOGNRH1 (Homo sapiens)9685137RGDDNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human) 
Gnrh1 ISOGNRH1 (Homo sapiens)7240710OMIM  
Gnrh1 ISOGNRH1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gnrh1 ISOGNRH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH DeficiencyPMID:19535795 PMID:19567835 PMID:26467025 PMID:28492532
Gnrh1 ISSGnrh1 (Mus musculus)13592920MouseDOOMIM:614841 
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